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Natural History Study of GATA2 Deficiency and Related Disorders

National Institute of Allergy and Infectious Diseases (NIAID) · with Baylor College of Medicine, UCSF Diabetes Center and Division of Infectious Diseases · NCT01905826

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 2–100 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
600
US sites recruiting
1
Study start
August 26, 2013
Record last updated
October 13, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

Background

  • GATA2 deficiency is a genetic disorder that can cause problems with a person s immune system and other body systems. Some people who have this disorder develop few problems from it. Others can have a wide range of health problems, from skin problems, to hearing loss, to cancer. These problems can happen at any age. Researchers want to study GATA2 deficiency to better understand what types of health problems it can cause, and why it causes problems in some people but not others, and at different ages.

Objectives

  • To improve understanding of GATA2 deficiency so there can be better diagnostic tests and treatments in the future.

Eligibility

  • People 2 years of age or older who have a GATA2 gene mutation or certain health conditions that are commonly seen in people with this mutation and their blood relatives.

Design

  • Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected to see whether participants have the GATA2 genetic mutation. Several other tests may be recommended, but participants can decline to take them.
  • Participants will be eligible to receive standard care for GATA2 deficiency through this protocol. They may be eligible for other clinical trials at the National Institutes of Health as well.
  • Participants will have regular study visits once a year to evaluate their GATA2 deficiency. Participants will take part in the study for at least 3 years and up to 15 years. At these follow-up visits, participants will fill out a questionnaire and take a physical exam and blood tests. Other tests may be performed as needed.

Conditions: GATA2 Deficiency

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria
  • INCLUSION CRITERIA:

Males and females greater than or equal to 2 years old must meet the following criteria to be eligible for participation in this study:

  • Have a mutation in GATA2 proven by genetic testing (previous test results will be accepted) OR meet both of the following criteria:
  • Clinical characteristics strongly consistent with GATA2 deficiency per the following criteria and at the discretion of the principal investigator (PI). Individuals without a GATA2 mutation must have a past or present history of 1 or more of the following to be considered for study enrollment:
  • Disseminated NTM or invasive fungal infection.
  • Severe or recurrent HPV or herpesvirus infection.
  • MDS, AML, or CMML.
  • Biopsy-proven PAP.
  • Laboratory characteristics strongly consistent with GATA2 deficiency per the following criteria. Individuals without a GATA2 mutation must have 1 or more of the following to be considered for study enrollment:
  • Absolute monocyte count \<240 cells/microL.
  • Absolute B lymphocyte count \<60 cells/microL.
  • Absolute NK lymphocyte count \<126 cells/microL.
  • Agree to undergo genetic testing.
  • Allow their samples to be stored for future research.

RELATIVE INCLUSION CRITERIA

Blood relatives, male or female, greater than or equal to 2 years old, of any patient on this study. If a relative is positive for GATA2 then they could become a patient on the study.

SUBJECT EXCLUSION CRITERIA

Individuals with any condition or who are taking any medications that, in the opinion of the investigator, contraindicates participation in the study will be excluded.

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

Study contacts (from the official record)

  • Audrey M Neale · (240) 506-4024 · audrey.neale@nih.gov
  • Steven M Holland, M.D. · (301) 402-7684 · sholland@mail.nih.gov
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Natural History Study of GATA2 Deficiency and Related Disorders (NCT01905826) | Bored Studies